日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration

通过基因组、表型、功能、结构和深度学习整合,将甲状腺激素转运蛋白MCT8的变异与疾病严重程度联系起来。

Groeneweg, Stefan; van Geest, Ferdy S; Martín, Mariano; Dias, Mafalda; Frazer, Jonathan; Medina-Gomez, Carolina; Sterenborg, Rosalie B T M; Wang, Hao; Dolcetta-Capuzzo, Anna; de Rooij, Linda J; Teumer, Alexander; Abaci, Ayhan; van den Akker, Erica L T; Ambegaonkar, Gautam P; Armour, Christine M; Bacos, Iiuliu; Bakhtiani, Priyanka; Barca, Diana; Bauer, Andrew J; van den Berg, Sjoerd A A; van den Berge, Amanda; Bertini, Enrico; van Beynum, Ingrid M; Brunetti-Pierri, Nicola; Brunner, Doris; Cappa, Marco; Cappuccio, Gerarda; Castellotti, Barbara; Castiglioni, Claudia; Chatterjee, Krishna; Chesover, Alexander; Christian, Peter; Coenen-van der Spek, Jet; de Coo, Irenaeus F M; Coutant, Regis; Craiu, Dana; Crock, Patricia; DeGoede, Christian; Demir, Korcan; Dewey, Cheyenne; Dica, Alice; Dimitri, Paul; Dremmen, Marjolein H G; Dubey, Rachana; Enderli, Anina; Fairchild, Jan; Gallichan, Jonathan; Garibaldi, Luigi; George, Belinda; Gevers, Evelien F; Greenup, Erin; Hackenberg, Annette; Halász, Zita; Heinrich, Bianka; Hurst, Anna C; Huynh, Tony; Isaza, Amber R; Klosowska, Anna; van der Knoop, Marieke M; Konrad, Daniel; Koolen, David A; Krude, Heiko; Kulkarni, Abhishek; Laemmle, Alexander; LaFranchi, Stephen H; Lawson-Yuen, Amy; Lebl, Jan; Leeuwenburgh, Selmar; Linder-Lucht, Michaela; López Martí, Anna; Lorea, Cláudia F; Lourenço, Charles M; Lunsing, Roelineke J; Lyons, Greta; Malikova, Jana Krenek; Mancilla, Edna E; McCormick, Kenneth L; McGowan, Anne; Mericq, Veronica; Lora, Felipe Monti; Moran, Carla; Muller, Katalin E; Nicol, Lindsey E; Oliver-Petit, Isabelle; Paone, Laura; Paul, Praveen G; Polak, Michel; Porta, Francesco; Poswar, Fabiano O; Reinauer, Christina; Rozenkova, Klara; Seckold, Rowen; Seven Menevse, Tuba; Simm, Peter; Simon, Anna; Singh, Yogen; Spada, Marco; Stals, Milou A M; Stegenga, Merel T; Stoupa, Athanasia; Subramanian, Gopinath M; Szeifert, Lilla; Tonduti, Davide; Turan, Serap; Vanderniet, Joel; van der Walt, Adri; Wémeau, Jean-Louis; van Wermeskerken, Anne-Marie; Wierzba, Jolanta; de Wit, Marie-Claire Y; Wolf, Nicole I; Wurm, Michael; Zibordi, Federica; Zung, Amnon; Zwaveling-Soonawala, Nitash; Rivadeneira, Fernando; Meima, Marcel E; Marks, Debora S; Nicola, Juan P; Chen, Chi-Hua; Medici, Marco; Visser, W Edward

Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease

对 8040 名未确诊的罕见病患者进行系统性致病启动子和非翻译区变异的鉴定

Martin-Geary, Alexandra C; Blakes, Alexander J M; Dawes, Ruebena; Findlay, Scott D; Lord, Jenny; Dong, Shan; Walker, Susan; Talbot-Martin, Jonathan; Wieder, Nechama; D'Souza, Elston N; Fernandes, Maria; Hilton, Sarah; Lahiri, Nayana; Campbell, Christopher; Jenkinson, Sarah; DeGoede, Christian G E L; Anderson, Emily R; Candler, Toby; Firth, Helen; Burge, Christopher B; Sanders, Stephan J; Ellingford, Jamie; Baralle, Diana; Banka, Siddharth; Whiffin, Nicola

Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease

对 8,040 名未确诊的罕见病患者进行系统性疾病致病启动子和非翻译区变异的鉴定

Martin-Geary, Alexandra C; Blakes, Alexander J M; Dawes, Ruebena; Findlay, Scott D; Lord, Jenny; Walker, Susan; Talbot-Martin, Jonathan; Wieder, Nechama; D'Souza, Elston N; Fernandes, Maria; Hilton, Sarah; Lahiri, Nayana; Campbell, Christopher; Jenkinson, Sarah; DeGoede, Christian G E L; Anderson, Emily R; Burge, Christopher B; Sanders, Stephan J; Ellingford, Jamie; Baralle, Diana; Banka, Siddharth; Whiffin, Nicola

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

MCT8 缺乏症的疾病特征:一项国际性、回顾性、多中心队列研究

Groeneweg, Stefan; van Geest, Ferdy S; Abacı, Ayhan; Alcantud, Alberto; Ambegaonkar, Gautem P; Armour, Christine M; Bakhtiani, Priyanka; Barca, Diana; Bertini, Enrico S; van Beynum, Ingrid M; Brunetti-Pierri, Nicola; Bugiani, Marianna; Cappa, Marco; Cappuccio, Gerarda; Castellotti, Barbara; Castiglioni, Claudia; Chatterjee, Krishna; de Coo, Irenaeus F M; Coutant, Régis; Craiu, Dana; Crock, Patricia; DeGoede, Christian; Demir, Korcan; Dica, Alice; Dimitri, Paul; Dolcetta-Capuzzo, Anna; Dremmen, Marjolein H G; Dubey, Rachana; Enderli, Anina; Fairchild, Jan; Gallichan, Jonathan; George, Belinda; Gevers, Evelien F; Hackenberg, Annette; Halász, Zita; Heinrich, Bianka; Huynh, Tony; Kłosowska, Anna; van der Knaap, Marjo S; van der Knoop, Marieke M; Konrad, Daniel; Koolen, David A; Krude, Heiko; Lawson-Yuen, Amy; Lebl, Jan; Linder-Lucht, Michaela; Lorea, Cláudia F; Lourenço, Charles M; Lunsing, Roelineke J; Lyons, Greta; Malikova, Jana; Mancilla, Edna E; McGowan, Anne; Mericq, Veronica; Lora, Felipe M; Moran, Carla; Müller, Katalin E; Oliver-Petit, Isabelle; Paone, Laura; Paul, Praveen G; Polak, Michel; Porta, Francesco; Poswar, Fabiano O; Reinauer, Christina; Rozenkova, Klara; Menevse, Tuba S; Simm, Peter; Simon, Anna; Singh, Yogen; Spada, Marco; van der Spek, Jet; Stals, Milou A M; Stoupa, Athanasia; Subramanian, Gopinath M; Tonduti, Davide; Turan, Serap; den Uil, Corstiaan A; Vanderniet, Joel; van der Walt, Adri; Wémeau, Jean-Louis; Wierzba, Jolante; de Wit, Marie-Claire Y; Wolf, Nicole I; Wurm, Michael; Zibordi, Federica; Zung, Amnon; Zwaveling-Soonawala, Nitash; Visser, W Edward

Frequency of reported pain in adult males with muscular dystrophy

成年男性肌营养不良症患者疼痛报告频率

Jacques, Matthew F; Stockley, Rachel C; Bostock, Emma I; Smith, Jonathon; DeGoede, Christian G; Morse, Christopher I

Influence of hypoxic duration and posthypoxic inspired O2 concentration on short term potentiation of breathing in humans

低氧持续时间和低氧后吸入氧浓度对人类呼吸短期增强作用的影响

Dahan, A; Berkenbosch, A; DeGoede, J; van den Elsen, M; Olievier, I; van Kleef, J

Carbonic anhydrase and control of breathing: different effects of benzolamide and methazolamide in the anaesthetized cat

碳酸酐酶与呼吸控制:苯唑胺和甲唑胺对麻醉猫的不同作用

Teppema, L; Berkenbosch, A; DeGoede, J; Olievier, C

The ventilatory response to CO2 of the peripheral and central chemoreflex loop before and after sustained hypoxia in man

人体持续性低氧前后外周和中枢化学反射环路对二氧化碳的通气反应

Berkenbosch, A; Dahan, A; DeGoede, J; Olievier, I C

Effect on ventilation of papaverine administered to the brain stem of the anaesthetized cat

罂粟碱注射到麻醉猫脑干后对通气的影响

Berkenbosch, A; Olievier, C N; DeGoede, J; Kruyt, E W

The ventilatory CO2 sensitivities from Read's rebreathing method and the steady-state method are not equal in man

在人体中,里德重复呼吸法和稳态法测得的通气二氧化碳敏感性并不相同。

Berkenbosch, A; Bovill, J G; Dahan, A; DeGoede, J; Olievier, I C